Dr Samuel John Rupert Allen Chawner

Biography

I research the impact of genomics on child development, neurodevelopmental conditions, and mental health.

A class of rare genomic variation known as copy number variants (CNVs, deletions or duplications of a chromosomal region), have been implicated in neurodevelopmental and psychiatric conditions. Although individually rare, neuropsychiatric CNVs are collectively common, estimated to be present in 10-15% of individuals with neurodevelopmental conditions, and 1 in 200 individuals in the general population.

My work aims to characterise the clinical profiles of neuropsychiatric CNVs and understand the mechanisms by which psychiatric conditions develop in this at-risk group.

This work has important clinical implications for the increasing number of patients receiving genetic diagnoses in clinical settings. It also has wider implications for identifying early signs of psychiatric conditions in the general population.

Public and stakeholder engagement is a key part of my work and I have worked with the media, charities, artists, clinicians, and policymakers to raise awareness of research into genomic conditions.